A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 4, 2010, Pages 471-472

  Herrero Marti ́N, Maria Dolores ^a,b,c   Ayuso, Teresa ^d   Tuñón, Maria Teresa ^d,e   Martín, Miguel Angel ^b,f   Ruiz Pesini, Eduardo ^a,b,c,g   Montoya, Julio ^a,b,c  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^d Universidad Pública de Navarra   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^f HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^g FUNDACIÓN ARAID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GLYCINE; MITOCHONDRIAL DNA;

ADULT; AMNESIA; APHASIA; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL FEATURE; COCHLEA PROSTHESIS; COMPUTER ASSISTED TOMOGRAPHY; DEPRESSION; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAPHY; ELECTRON MICROSCOPY; EPILEPTIC STATE; EVOKED AUDITORY RESPONSE; FEMALE; GENE MUTATION; GLIOSIS; HEADACHE; HEARING LOSS; HEMIPARESIS; HISTOPATHOLOGY; HUMAN; LETTER; LIMB WEAKNESS; MALNUTRITION; MELAS SYNDROME; MENTAL DEFICIENCY; MENTAL DETERIORATION; MERRF SYNDROME; MUSCLE BIOPSY; NEUROIMAGING; PERCEPTION DEAFNESS; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM;

CEREBELLAR ATAXIA; DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; MERRF SYNDROME; MYOCLONIC CEREBELLAR DYSSYNERGIA; PHENOTYPE; POINT MUTATION; YOUNG ADULT;

EID: 77950620685     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.173831     Document Type: Letter

References (5)

1. Byrne E, Trounce I, Dennett X, et al. Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies. J Neurol Sci 1988;88:327-37.
2. Silvestri G, Rana M, DiMuzio A, et al. A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. Neuromuscul Disord 1998;8:291-5.
3. Herrero-Martin MD, Pineda M, Briones P, et al. A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1). Hum Mutat 2008;29:E103-11.
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5. Melone MA, Tessa A, Petrini S, et al. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Arch Neurol 2004;61:269-72.